Myotonic dystrophy and out-of-hospital arrest

Kamara, Achmed; Nijjer, Sukhjinder; Ghosh, Ashoke Kumar; Grocott-Mason, Richard; Dubrey, Simon W

doi:10.7861/clinmedicine.10-6-630

Cited by 3 publications

(1 citation statement)

References 11 publications

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“…Her facial appearance and calvities were characteristic of myotonic dystrophy type 1, and circulatory events in the ICU were also keys for diagnosis. Some reports have suggested that fatal arrhythmias, such as ventricular tachycardia and Vf, and takotsubo syndrome are often clues for the diagnosis of myotonic dystrophy type 1 [4][5][6]. Since a genetic test is the only way to diagnose myotonic dystrophy type 1, we should not hesitate to perform genetic testing when we encounter a case that has difficulty recovering from respiratory failure.…”

Section: Discussionmentioning

confidence: 99%

A patient with myotonic dystrophy diagnosed after experiencing sudden respiratory failure: a case report

et al. 2020

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Background Myotonic dystrophy is a disorder affecting multiple organs including skeletal muscles and causes respiratory failure. We describe a patient who developed respiratory failure, with delayed diagnosis of myotonic dystrophy type 1 as the cause. Case presentation A 62-year-old woman developed acute onset of dyspnea after showing hypertension and tachycardia and was transported to our hospital. On arrival at our institution, SpO2 was 80% with a non-rebreather mask. With a diagnosis of acute phase heart failure, she underwent tracheal intubation. However, weaning from the respirator was difficult in the intensive care unit (ICU). A detailed interview revealed that her brother was affected with myotonic dystrophy type 1. She was also diagnosed with myotonic dystrophy type 1 by a genetic test. Conclusions Taking a careful past and family history and prompt genetic testing is required on suspicion of neuromuscular diseases in a patient with respiratory failure by an unknown cause.

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Section: Discussionmentioning

confidence: 99%

A patient with myotonic dystrophy diagnosed after experiencing sudden respiratory failure: a case report

et al. 2020

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心室細動発症を契機に診断された筋強直性ジストロフィーの1例(Manifestation of sudden–onset ventricular fibrillation along with myotonic dystrophy type 1: a case report)

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et al. 2015

Nihon Kyukyu Igakukai Zasshi: Japanese Journal of Japanese Asso

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要旨患者は43歳の女性。外出中に卒倒し救急要請された。救急隊接触時は心室細動による心停止状態であり，電気的除細動を含む心肺蘇生を実施しながら当院へ搬送となった。心室細動は持続しており，extracorporeal cardiopulmonary resuscitationを導入開始し，心停止から73分後に経皮的人工心肺補助装置を作動させた。入院後に集学的治療を施行し一命をとり留めた。心室細動の原因疾患を検索したが，心臓超音波検査や冠動脈造影検査を含む諸検査では器質的異常は認められず，また蘇生後に延長していたQTc時間は経時的に正常化した。一方で，患者は突然死の家族歴を有し，四肢の筋萎縮が目立つ痩身体型で，西洋斧様顔貌といった特徴的な身体所見を呈していた。筋強直性ジストロフィーを疑い，分子遺伝学的検査を施行した結果，1型筋強直性ジストロフィー（DM1）と確定診断された。今回の心室細動の原因はDM1に起因するものと推察された。若年者の心室細動症例では，その背景に遺伝性疾患が存在する可能性も考慮すべきである。逆に，遺伝性疾患を有する患者においては，突然死の原因となる致死性不整脈の発症リスクを評価し，予防的ペースメーカーまたは植込み型除細動器の植込みを考慮すべきである。

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Prevalence of type 1 Brugada ECG pattern after administration of Class 1C drugs in patients with type 1 myotonic dystrophy: Myotonic dystrophy as a part of the Brugada syndrome

et al. 2014

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Myotonic dystrophy and out-of-hospital arrest

Cited by 3 publications

References 11 publications

A patient with myotonic dystrophy diagnosed after experiencing sudden respiratory failure: a case report

A patient with myotonic dystrophy diagnosed after experiencing sudden respiratory failure: a case report

心室細動発症を契機に診断された筋強直性ジストロフィーの1例(Manifestation of sudden–onset ventricular fibrillation along with myotonic dystrophy type 1: a case report)

Prevalence of type 1 Brugada ECG pattern after administration of Class 1C drugs in patients with type 1 myotonic dystrophy: Myotonic dystrophy as a part of the Brugada syndrome

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